Familial Hirschsprung's disease--a report of 22 affected siblings in four families

Twenty-two infants, belonging to four families from Gaza, presenting with typical features of Hirschsprung's disease are reported. Eight patients died at home shortly after birth, prior to 1974, due to low intestinal obstruction. Fourteen patients were referred to Hadassah University Hospital after 1974 and diagnosed, by rectal biopsy, as having Hirschsprung's disease. Thirteen underwent laparotomy and multiple intestinal biopsies. Ten had total intestinal aganglionosis, two had total or near total aganglionosis, and in only one patient was the common rectosigmoid aganglionosis found. One patient died prior to surgery. This unusual familial disease, involving very long aganglionic segments, raises the possibility that these infants suffered from a unique variant of Hirschsprung's disease.     

Stercoral perforation of the rectosigmoid colon due to chronic constipation: A case report

IntroductionChronic constipation is very common in elderly patients. As a result of this situation fecaloma is also frequently seen at these ages. However, the stercoral perforation caused by fecaloma is a rare situation to occur. The rectosigmoid colon is the most affected colonic segment. It is seen in older patients with concomitant diseases and a low quality of life.Presentation of caseHere in this case, we have to report an 83 – year-old male patient who came to the emergency room with complaints of abdominal pain and constipation for two days. He had Type II Diabetes Mellitus, had a cardiac stent and also Alzheimer’s disease. We diagnosed a rectosigmoid perforation due to a large fecaloma. This case presentation was prepared in accordance with the scare checklist guidelines (Agha et al., 2016 [1]).DiscussionConstipation and faecal impaction are common entities, particularly in elderly and bedridden patients. Fecalomas are collections of dehydrated, hardened stool. They rarely can cause colonic ischemia and/or stercoral perforation. Stercoral perforation is the perforation or rupture of the intestine walls by a stercoraceous mass. Stercoral perforation is a very dangerous, life-threatening situation, as well as a surgical emergency, because the spillage of contaminated intestinal contents into the abdominal cavity leads to peritonitis, a rapid bacteremia with many complications.ConclusionFecalomas can cause stercoral perforations. This situation can be confused with other causes of acuteabdomen in these patients. Early surgery can be life saving.     

Hirschsprung's disease in an infant with colonic atresia and normal fixation of the distal colon

The coexistence of colonic atresia and Hirschsprung's disease presents a diagnostic and therapeutic challenge. Colonic atresia is quickly recognized, and the majority of patients are diverted shortly after birth. The diagnosis of coincident Hirschsprung's disease usually is made after anastomotic failure after restoration of intestinal continuity. A recent compilation of these patients has suggested that Hirschsprung's disease may be predicted on the basis of nonfixation of the colon distal to the atresia. However, we recently cared for an infant with transverse colonic atresia and total colonic aganglionosis associated with normal orientation and fixation of the distal colon.     

Acute to chronic postoperative pain in children: preliminary findings

Background/purpose

Chronic postoperative pain is a well-established clinical phenomenon that is associated with adverse outcomes. The incidence of this clinical phenomenon in children, however, is not well established. The purpose of this study was to identify the incidence of chronic pain in children after surgery.

Methods

Following a screening process, a total of 113 children and their parents were enrolled in this cross-sectional study. Data regarding persistence and characteristics of pain after surgery were obtained.

Results

Approximately 13% of the children, most of whom underwent orthopedic procedures, reported the existence of symptoms of chronic postoperative pain. Most of the children indicated that the pain started immediately after surgery, was localized to the surgery site, and was intermittent. Children reported a median duration of pain of 4.1 months, and approximately half of the children experienced pain most days of the week. Up to 30% of the children reported interference of pain in functioning in areas such as extracurricular activities and sleep.

Discussion

Given the large number of children at risk for experiencing chronic postoperative pain, preventative efforts are necessary. Large-scale cohort prospective studies are needed to confirm the results of this cross-sectional study.     

Laparoscopy-assisted endoscopic mucosal resection in the colon: a preliminary report

Endocopic mucosal resection of flat villous tumours or giant polyps (> 3 cm) may give rise to local complications such as haemorrhage or perforation because of the very thin wall of the colon, above all in the right half. Our aim was to evaluate whether laparoscopy-assisted endoscopic excision of flat villous tumours or giant polyps (> 3 cm) can be safely performed, avoiding critical septic complications and can also help in the selection of patients to be submitted to colonic resection without increasing morbidity or mortality. The procedure is a new minimally invasive therapeutic approach in selected cases with large, sessile or awkwardly located polyps. Unlike other techniques such as polypectomy, endoscopic mucosal resection completely removes the affected mucosa by resecting through the middle or deeper part of the submucosa. Another purpose of the procedure is to obtain specimens for accurate pathological staging. Our experience consisted in the treatment of two patients, one of whom with a laterally spreading tumour of the transverse colon with the suck and cut cap-assisted technique, and one with a large sessile polyp of the caecum with the lift and cut technique. The patients presented no complications and no recurrence was observed during the subsequent follow-up.     

Phalloplasty and urethroplasty in children with penile agenesis: preliminary report

PURPOSE: Female gender has been assigned to 46,XY newborns affected by aphallia, possibly resulting in subsequent gender dysphoria. Prenatal and postnatal effects of the androgens on the brain and sexual orientation cannot be modified later. Therefore, patients affected by aphallia should be raised as males. Because definitive forearm flap phalloplasty is generally not recommended before puberty, we performed a preliminary penile reconstruction during childhood in 4 patients. MATERIALS AND METHODS: Four patients with aphallia who had no sex reassignment at birth were treated at age 9, 17 and 36 months, and 12 years in a single operation. The urethral channel was dissected through an anterior-sagittal-transanorectal approach, and then phalloplasty and urethroplasty were carried out using an abdominal skin flap and a bladder/buccal mucosa free graft. RESULTS: Immediate postoperative outcome was excellent in all the patients. One patient had excellent functional and cosmetic results at 5 years, while 2 had a partial dorsal urethral dehiscence resulting in an epispadiac urethra at 2 years, and 1 had necrosis of the distal urethra and was voiding through a scrotal urethrostomy at 9 months postoperatively. Phalloplasty survived and provided an adequate male appearance in all patients. CONCLUSIONS: Opposite gender should not be assigned in patients affected by penile agenesis, who are better raised according to their karyotype and hormonal production. Definitive phalloplasty in adults may achieve good results. Nevertheless, this procedure is generally performed in postpubertal boys and it is not easily available everywhere. Therefore, we believe that social and psychological concerns justified this type of phalloplasty as a palliative preliminary procedure in 3 of our patients. In those countries where definitive forearm phalloplasty is not available our method may also be justified in older children (as in 1 of our patients) as an attempt at a definitive procedure.     

Intensity and proximal extension of acetylcholinesterase activity in the mucosa of the rectosigmoid in Hirschsprung's disease

By staining for AChE activity, 51 consecutive rectal biopsies were investigated for the presence of mucosal nerve fibers in order to evaluate the possibilities of suction biopsies for the diagnosis of Hirschsprung's disease. Of nine patients suffering from Hirschsprung's disease, AChE activity was increased in eight. This study suggest that the intensity and proximal extension of AChE activity increase with age, and that mucosal activity does not extend as far proximally as in the submucous and intramuscular plexuses. From the study of resected bowel segments of eight patients it is concluded that false-negative findings in the rectal mucosa of patients with Hirschsprung's disease are avoidable by taking the biopsy immediately beyond the pectinate line. There were no false-positive findings.     

腹腔镜辅助先天性巨结肠根治术30例经验报告

目的　总结和介绍腹腔镜辅助先天性巨结肠根治术 30例临床结果和腹腔镜手术操作经验。方法　从 1 999年 1 0月～ 2 0 0 2年 1月对 30例确诊先天性巨结肠症 (Hirschsprung’sdisease,HD)患儿实施手术。结果　 30例手术均获成功 ,达到开腹手术同样治疗效果。结论　行腹腔镜辅助先天性巨结肠根治术安全 ,有效 ,减少手术创伤     

Gastric emptying of solids in normal children--a preliminary report

Objective

The physiological range of gastric emptying in healthy children has not previously been documented. The aim of this study was to establish the range of normal gastric emptying in children aged between 5 and 10 years with a Tc 99m-labelled solid meal acceptable to most of the children.

Methods

A list of 7 child-friendly foods was compiled. Thirty-one children aged 5 to 10 years completed a questionnaire, ranking their favourite food choices. A volume survey, to decide the weight of solid meal for the study, was carried out in 20 children.After ethical approval, gastric emptying was monitored in healthy children aged 5 to 10 years with a ^99mTc-labelled solid meal selected by the methodology given hereinabove. Geometric mean counts were obtained from anterior and posterior gamma camera images, and data were used to produce normal emptying curves. In each case, a T_1/2 gastric emptying time (time taken to empty half the stomach contents) was calculated.

Results

The overall preference was a chocolate Technecrispy cake, and the volume survey suggested a 30-g weight for the study. Twenty-four subjects consumed the meal and completed the study. The mean T_1/2 gastric emptying time was 107.2 minutes (2 SD; range, 54.6-159.8 minutes).

Conclusions

Chocolate Technecrispy cake was acceptable to most healthy children between 5 and 10 years of age and gave mean T_1/2 gastric emptying time of 107.2 minutes. This meal can now be used for paediatric patients with transit problems.     

Otologic symptoms and findings of the pseudotumor cerebri syndrome: a preliminary report

Pseudotumor cerebri or benign intracranial hypertension is a syndrome characterized by increased intracranial pressure without focal signs of neurologic dysfunction. The clinical manifestations of this syndrome are usually headache and/or disturbance of vision. Although tinnitus, hearing loss, and vertigo have been described in association with intracranial hypertension, otologic symptomatology as the presenting manifestation of this syndrome has not been previously reported. In this article we report the otologic symptoms and findings of two pseudotumor cerebri patients, one of whom presented with pulsatile tinnitus. The pathogenesis of the otologic symptoms, diagnostic workup, and management of these patients are discussed.     

NPY hyperinnervation in Hirschsprung's disease: both adrenergic and nonadrenergic fibers contribute.

In Hirschsprung's disease, the aganglionic bowel is characterized by an absence of ganglion cells and an increased number of adrenergic and presumed cholinergic nerve fibers. In addition, a severe derangement of peptide-containing nerve fibers is encountered including a hyperinnervation of neuropeptide Y (NPY)-containing fibers. Using immunochemical and immunocytochemical methods, we examined the nature of the NPY-containing nerve fibers contributing to the hyperinnervation. The concentration of NPY was markedly increased in the aganglionic segment. Coexistence of NPY, vasoactive intestinal peptide (VIP), and the adrenergic enzyme tyrosine hydroxylase (TH) showed small populations of nerve fibers containing NPY/TH, NPY/VIP, or TH alone in ganglionic intestine. Numerous nerve fibers stored VIP but lacked NPY. These fibers did not contain TH, indicating that all VIP-containing fibers are nonadrenergic. In the aganglionic intestine there was a marked increase in the number of nerve fibers storing NPY/TH and NPY/VIP, whereas the fibers storing VIP alone were reduced in number. A small number of nerve fibers storing NPY alone occurred in the hypertrophic nerve bundles. NPY/VIP-containing nerve fibers were particularly numerous in the mucosa in aganglionic intestine, which may be of interest in the diagnosis of Hirschsprung's disease allowing the use of mucosal biopsy specimens. Thus, the proliferating NPY-containing nerve fibers in the aganglionic intestine seem to comprise three different populations, one adrenergic and two nonadrenergic, one of which contains in addition VIP.     

Expression of estrogen and androgen receptors in children with hypospadias: preliminary report

This investigation was conducted to evaluate the presence of estrogen and androgen receptors in penile tissues of patients with hypospadias. The biopsy specimens from prepuce, glans, and urethral plate were sampled during the hypospadias surgery in five patients and were analyzed immunohistochemically. Twelve specimens were investigated for the presence of estrogen or androgen receptors (n: 24); the result was negative in 9 (37%) and positive in 15 (63%). Estrogen receptors were present in 10 specimens (42%) (prepuce: 5, glans: 3, and urethral plate: 2). Androgen receptors were present in 5 specimens (21%) (prepuce: 3, glans: 1, and urethral plate: 1). There was expression of both estrogen and androgen receptors in 5 specimens and only estrogen receptors in the remaining 5. Dominant expression of estrogen receptors in penile tissues of children with hypospadias may be the postnatal finding of disrupted estrogen and androgen receptor interaction during the intrauterine development of external genitalia.     

Patient-controlled regional analgesia is effective in children: a preliminary report

PURPOSE: To report a preliminary analysis of prospectively recorded data in 27 children in whom patient-controlled regional analgesia (PCRA) was used for postoperative pain control following lower limb surgery. METHODS: Under general anesthesia, perineural catheters (popliteal and fascia iliaca compartment block) were inserted and infused with ropivacaine 0.2% (0.02 mL.kg(-1).hr(-1)). Additional demand doses were left to the child's discretion (0.1 mL.kg(-1)and a 30-min lockout interval). RESULTS: The average total dose of ropivacaine administered was 4.9 +/- 2 mg.kg(-1)over 48 hr. Visual analogue scale and Children's Hospital of Eastern Ontario Pain Scale scores were always inferior to 5/10 and 6/13, respectively. Motor block was observed in two children and two children needed rescue analgesia. CONCLUSIONS: Our preliminary observations indicate that PCRA in children provides satisfactory postoperative pain relief following lower limb surgery.     

The clinical presentation of chronic whiplash and the relationship to findings of MRI fatty infiltrates in the cervical extensor musculature: a preliminary investigation

The objective was to determine whether any measurable changes in sensory responses, kinesthetic sense, cervical motion, and psychological features were related to established fatty infiltration values in the cervical extensor musculature in subjects with persistent whiplash. It is unknown if fatty infiltrate is related to any signs or symptoms. Data on motor function, Quantitative Sensory Testing, psychological and general well-being, and pain and disability were collected from 79 female subjects with chronic whiplash. Total fat values were created for all subjects by averaging the muscle fat indices by muscle, level, and side from our MRI dataset of all the cervical extensor muscles. Results of this study indicate the presence of altered physical, kinesthetic, sensory, and psychological features in this cohort of patients with chronic whiplash. Combined factors of sensory, physical, kinesthetic, and psychological features all contributed to a small extent in explaining the varying levels of fatty infiltrate, with cold pain thresholds having the most influence (r ² = 0.28; P = 0.02). Identifying and relating quantifiable muscular alterations to clinical measures in the chronic state, underpin some clinical hypotheses for possible pathophysiological processes in this group with a chronic and recalcitrant whiplash disorder. Future research investigations aimed at accurate identification, sub-classification, prediction, and management of patients with acute and chronic whiplash is warranted and underway.     

Postoperative refractive changes in children with congenital esotropia: a preliminary study

A transient myopic inclination was found 2 months postoperatively in 23 children who had undergone surgery for congenital esotropia. Neither the age of the children at the time of surgery nor the length of muscle recession/resection influenced these refractive myopic changes. Early postoperative refractive correction with periodic follow-up is essential in preventing amblyopia. In 21 of the 23 children, visual acuity was 6/10 or better at last examination.     

Dynamic graciloplasty in children with fecal incontinence: a preliminary report.

BACKGROUND: Various therapeutic methods have been developed for anal incontinence. A reconstruction of the sphincter system with functional adaptation can be achieved by stimulation of the transposed gracilis muscle with an implanted stimulator. METHODS: The authors performed a dynamic graciloplasty in 4 boys, aged between 6 and 10 years. Causes for the incontinence were polytrauma with pelvic rupture, VACTERL syndrome with rectal urethral fistula, anal atresia with primary reconstruction and 6 consecutive operations, and coccygeal teratoma in a premature infant with surgical treatment of the recurrent tumour. All children had grade III incontinence. Postoperatively, the duration of stimulation was increased successively by telemetric programming of the pulse generator up to a continuous mode. RESULTS: One child is now almost continent, 2 show grade I incontinence, 1 is incontinent with frequent soiling (the programming has not been completed yet). CONCLUSION: An evaluation of this method for children will not be possible until more operations have been performed, under the conditions of a prospective study, which appears indicated in view of the preliminary but encouraging results presented.